EUROPEAN DNA PROFILING GROUP (EDNAP) MEETING

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1 EUROPEAN DNA PROFILING GROUP (EDNAP) MEETING BLED, SLOVENIA APRIL 2006 Host: Aleksander Regent Chairman: A list of participants is attached. Welcome Aleksander Regent welcomed members to Bled. Update on publications in press Two publications are available as electronic publications on the web: Gill P, Fereday L, Morling N, Schneider PM. New multiplexes for Europe-Amendments and clarification of strategic development. Forensic Sci Int Jan 16; [Epub ahead of print]. Dixon LA, Dobbins AE, Pulker HK, Butler JM, Vallone PM, Coble MD, Parson W, Berger B, Grubwieser P, Mogensen HS, Morling N, Nielsen K, Sanchez JJ, Petkovski E, Carracedo A, Sanchez-Diz P, Ramos-Luis E, Brion M, Irwin JA, Just RS, Loreille O, Parsons TJ, Syndercombe-Court D, Schmitter H, Stradmann-Bellinghausen B, Bender K, Gill P. Analysis of artificially degraded DNA using STRs and SNPs-results of a collaborative European (EDNAP) exercise. Forensic Sci Int Dec 9; [Epub ahead of print]. Update on other activities AB mini-strs verification test update Helle Smidt Mogensen Walther Parson Before ISFG/EDNAP/ENFSI had published the recommendations on ministrs, AB had designed an adjunct ministr kit with 8 STRs from the Identifiler kit + amelogenin. The purpose of the kit was to overcome problems with degradation and inhibition. AB selected the markers because they are the most likely Identifiler STRs not to give results with degraded DNA. The fragment lengths of the STRs are reduced compared to those in Identifiler, and a new, enhanced buffer is used. The markers are: Amelogenin D2S1338 D7S820 D13S317 EDNAP Minutes April Bled, Slovenia Doc: EDNAP2006_Bled.doc Page 1 of 6

2 D16S539 D18S51 D21S11 CSF1PO FGA. The recommended number of PCR cycles is 30 compared to 28 for SGM Plus and Identifiler. Innsbruck has tested two versions of the AB ministr kit and Copenhagen has tested the later version. The results obtained in both labs with the last version of the kit showed that the ministr kit gives more results with partly degrade DNA than SGM Plus and Identifiler and that the ministr is less sensitive to inhibitors than SGM Plus and Identifiler. The AB ministr kit is not in accordance with the recommendations offered by the ISFG/EDNAP/ENFSI. EDNAP suggest that the principles of the new buffer is used for the existing kits, including SGM Plus. Selection of more standard STRs The 7 common Interpol STRs are: Peter Gill D3S1358 D8S1179 D18S51 D21S11 HUMFGA/FIBRA HUMVWA HUMTH01 In two joint papers from ISFG/EDNAP/ENFSI, ways forward were suggested, including the use of: Group I ministrs: D2S441 (replacing D14S1434) D10S1248 D22S1045 Group II minstrs D12S391 D1S1656 TPOX Due to limited polymorphism, HumTPOX is not the best choice, but it is in general use in the forensic community. EDNAP members realize that the development of kits that fulfil all wishes is unrealistic to take place within the first years. Therefore, realistic priorities must be found. No final conclusion is presently offered, and EDNAP members realize that the final decision is up to the producers. Suggestions included: - SGM Plus as it is + 3 ministrs from group 1 (likely time frame: months) - mini-sgm Plus + 5 ministrs - 5 ministr + 3 Interpol loci During the joint meeting between EDNAP and the ENFSI Philosophy Group, it was stressed that ISFG/EDNAP/ENFSI has expressed the need for at least 3 new ministr loci, and that EDNAP Minutes April Bled, Slovenia Doc: EDNAP2006_Bled.doc Page 2 of 6

3 the 7 Interpol STR loci must be typed with the most sensitive methods. No decision concerning the precise loci was made. Members will discuss the options in details in an discussion group that will be initiated by Peter Gill. ISFG/EDNAP/ENFSI has offered manufacturers to help with validation of new ministrs, and the EDNAP group feels that it should be done on voluntary basis. During the joint meeting between EDNAP and the ENFSI Philosophy Group, a total of 15 EDNAP and ENFSI laboratories expressed interest in taking part in a validating exercise. Update on exercises EMPOP Walther Parson Walther Parson presented an update of the EMPOP database project. A new software set that allows quality checks on mtdna datasets has been implemented. The software set includes: Haplogroup-ID: A software that allows for the identification of errors at haplogroupdiagnostic positions. Phylocheck: highlights arteficial recombinants between wrongly assembled HVS-I and HVS- II segments. Strong compatibility: A new software that is capable of finding errors at stochastic (private) mutations in the mtdna control region. This is achieved by filtering sites with high mutation frequencies from the dataset and use the reduced set for reporting a network. Reticulations in the network indicate parallel mutations and/or errors in the dataset that can be checked on an individual basis. The software set helps to improve the quality of data extracted from the literature (to be loaded onto the database). It has also been successfully applied to check the correctness of mtdna data in the course of the reviewing process. SNPforID SNP exercise Kits for (1) amplification of the 52 autosomal SNPs and (2) single base extension of 29 of the SNPs were sent to 12 laboratories together with a macro for the analysis of the results. A total of 9 laboratories have returned results in form of phenotypes. Considering that this is a complicated kit that has not been through a commercial customization, the results are good. However, a number of discrepancies were observed. Participants are encouraged to send the original Genotyper files to Copenhagen where the results will be checked and the laboratories will be asked to go through discrepant results. Clerical errors are to be expected because the process included a large amount of human interpretations and transfers of information done by hand. Copenhagen has established rules for the interpretation of results obtained in the Copenhagen lab. Similar rules must be established in each laboratory. In order to help with this process, Copenhagen will collate the results and, if possible, establish general, basic rules for interpretation that can be used as the starting point for local implementation of SNP interpretation rules. During the discussion, a number of points were raised, including the need for automation in order to avoid clerical errors, rules for calling of heterozygotes and homozygotes (accepting that some results will be categorized as unclear). EDNAP Minutes April Bled, Slovenia Doc: EDNAP2006_Bled.doc Page 3 of 6

4 Laboratories are encouraged to send the Genotyper data files as soon as possible to Juan Sanchez in Copenhagen. Update on planned publications DNA mixtures interpretation Peter Gill The DNA Commission of the ISFG has produced recommendations on the interpretation of DNA mixtures. Peter Gill gave an overview of the recommendations that have been submitted to the FSI. The manuscript has been circulated to EDNAP members as a pdf-document. The manuscript will be published together with an editorial in FSI in August The ISFG will open a discussion forum on the web site to promote discussion. Members are encouraged to involve local statisticians in discussions. The DNA Commission is kept active because it is expected that the recommendations will need to be updated within the near future. During the ENFSI meeting, it was decided to set up an discussion group in order to implement policies for interpretation e.g. as clarifications to ISO The group will be initiated by Peter Gill. Updates from other groups ENFSI Peter Gill ENFSI members shortly mentioned the work that is going on in the various groups, see the attached agenda from the ENFSI meeting. SWGDAM & FBI No member could help with update. NIST John Butler was unable to attend the meeting and had kindly sent a pdf-file with slides summarising the present status (attached) that was presented. SNPforID Project status after three years of funding ( ): Selection of SNPs completed Population genetic validation completed Assessment of technology platforms continued Forensic validation in progress Final report in preparation Peter Schneider Major results: Y-chromosomal 29-plex for major Y haplogroup assigment (Brion et al, Electrophoresis, 2005) Autosomal 52-plex for human identification (Sanchez et al. Electrophoresis, 2006) Autosomal population-specific 32-plex for prediction of the population of origin (Africans, Europeans, Asians) (Phillips et al., in prep.) Definition of 45 mtdna coding SNPs for hg H* subtyping ( 50% of samples reveal subgroup) (Brandstätter et al., Electrophoresis, in press) Current activities: EDNAP Minutes April Bled, Slovenia Doc: EDNAP2006_Bled.doc Page 4 of 6

5 Forensic validation study on 52-plex using SNaPshot typing on: Reference DNA samples for sensitivity testing Artificially and naturally degraded DNA Simulated casework samples SNP exercise among EDNAP labs Collaborations with companies expressing interest to use 52-plex panel for development of forensic SNP typing kit The SNPforID website ( with: publications supplementary data on the 52-plex (full primer and sequence information, frequency data) link to the SNPforID browser (population data from SNPforID, linked with relevant dbsnp & HapMap SNP data) Disaster Victim Identification Peter Schneider The ISFG has made a Disaster Victim Identification (DVI) commission has been established. The first meeting will be held in the middle of May Interpol No member could help with update. Future activities New mtdna SNP exercise Walther Parson will contact Angel Carracedo, Antonio Salas and others to discuss the possibility to make a joint exercise with the two mtdna SNP multiplexes from Innsbruck and Santiago de Compostela. EDNAP web site update ( Peter Schneider The STADNAP information is now placed at the EDNAP part of the ISFG web site. A new ISFG web site is planned. Joint meeting with ENFSI Philosophy Group The points to be discussed were identified. After the presentation of the EDNAP website, it was clear that the EDNAP website for some time has signalled that ENFSI members can participate in EDNAP meetings. During the EDNAP-ENFSI meeting, it was agreed that members of the ENFSI Philosophy Group, now called Technology and Interpretation, will be invited for future EDNAP meetings. Any other business Genemapper Walther Parson The group recognises the many problems with AB Genemapper and the urgent needs for improvements. During the EDNAP-ENFSI meeting, it was agreed to set up an discussion group initiated by Walther Parson. During the ENFSI meeting, it was agreed with the AB European Manager, Marco Piccinini that Walther Parson and will inform about problems that need to be addressed. EDNAP Minutes April Bled, Slovenia Doc: EDNAP2006_Bled.doc Page 5 of 6

6 Next meeting The next EDNAP meeting will be held in conjunction with the next ENFSI meeting on September 2006 in Tallin, Estonia. Closing of the meeting The meeting closed with sincere thanks to Alexander Regent for hosting the meeting. Attachments List of participants Two ISFG-EDNAP-ENFSI papers on mini-strs and database-strs ENFSI DNA WG Agenda NIST-update. EDNAP Minutes April Bled, Slovenia Doc: EDNAP2006_Bled.doc Page 6 of 6

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